Canonical Allele Identifier: CA686474

Gene: FUCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23859889A>C , CM000663.2:g.23859889A>C	GRCh38
NC_000001.10:g.24186379A>C , CM000663.1:g.24186379A>C	GRCh37
NC_000001.9:g.24058966A>C	NCBI36
NG_013346.1:g.13481T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.677T>G MANE Select	ENSP00000363603.3:p.Leu226Arg
ENST00000374479.3:c.677T>G	ENSP00000363603.3:p.Leu226Arg
NM_000147.4:c.677T>G	NP_000138.2:p.Leu226Arg
XM_005245821.1:c.302T>G	XP_005245878.1:p.Leu101Arg
XM_011541167.1:c.44T>G	XP_011539469.1:p.Leu15Arg
XM_005245821.3:c.302T>G	XP_005245878.1:p.Leu101Arg
XM_011541167.3:c.44T>G	XP_011539469.1:p.Leu15Arg
XM_017000905.2:c.374T>G	XP_016856394.1:p.Leu125Arg
NM_000147.5:c.677T>G MANE Select	NP_000138.2:p.Leu226Arg
NR_174379.1:n.855T>G
NR_174380.1:n.904T>G
NR_174381.1:n.743T>G
NR_174382.1:n.1140T>G